Disease: Oculocerebrorenal Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906484
rs387906484
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
Oculocerebrorenal Syndrome 		T 0.700 CausalMutation CLINVAR Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. 8504307 1993